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<h1>
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<span>Ehsan Ullah, PhD</span>
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<a href="/research/research-labs-and-branches/ophthalmic-genomics-laboratory" hreflang="en">Ophthalmic Genomics Laboratory</a>
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<h2>Biography</h2>
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<div><p>Dr. Ehsan Ullah oversees the genomics analytics of the Ophthalmic Genomics Laboratory at the National Eye Institute, a CLIA-certified genetic diagnostic lab specialized in biorepository and diagnostics for patients with inherited eye diseases. He has a diverse background in clinical pathology, biochemistry, molecular biology, medical genetics, genomics, and bioinformatics. He received his PhD in Biochemistry specializing in ophthalmic genetics from Quaid-i-Azam University, Islamabad, Pakistan. He also received a research fellowship at the University of California, San Francisco. He completed his medical genetics fellowship at the National Human Genome Research Institute, NIH, in 2023.</p></div>
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<h2>Current research</h2>
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<div><p>Our research is focused on enhancing the identification of heritable sequence variants involved in causing genetic eye disorders in children and adults. Precisely, we aim to improve the clinical interpretation of DNA sequence variants by using large patient cohorts and reproducible bioinformatics workflows. Additionally, we are interested in increasing the diagnostic yield for genetic eye disorders by (re)-analysis of exome and genome datasets, and by using several latest technologies including RNAseq, Long-Read sequencing, and Methylation studies. We are extensively studying undiagnosed cases to identify novel genes and variants to end the diagnostic odyssey of affected families as well as to contribute to creating new knowledge in the field of ocular genetics. We collaborate with several experts within NIH as well as globally for several research projects.</p><p><a href="https://scholar.google.com/citations?hl=en&user=UVtrXPUAAAAJ&view_op=list_works&sortby=pubdate">Link to Google Scholar</a></p></div>
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<h2>Selected publications</h2>
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<div><div class="c-text">
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<p>Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., & Khan, F. S. (2015). Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics, 134, 941-950. <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/ ">https://pubmed.ncbi.nlm.nih.gov/26063662/</a></p><p>Hufnagel, R. B., Liang, W., Duncan, J. L., Brewer, C. C., Audo, I., Ayala, A. R., Branham, K., Cheetham, J. K., Daiger, S. P., & Durham, T. A. (2022). Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study. Human mutation, 43(5), 613-624. <a href="https://pubmed.ncbi.nlm.nih.gov/35266249/">https://pubmed.ncbi.nlm.nih.gov/35266249/</a></p><p>Huryn, L. A., Kozycki, C. T., Serpen, J. Y., Zein, W. M., Ullah, E., Iannaccone, A., Williams, L. B., Sobrin, L., Brooks, B. P., & Sen, H. N. (2023). Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology, 130(4), 423-432. <a href="https://pubmed.ncbi.nlm.nih.gov/36332842/">https://pubmed.ncbi.nlm.nih.gov/36332842/</a></p><p>Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., & Mattapallil, M. J. (2022). Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Annals of the rheumatic diseases, 81(10), 1453-1464. <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/">https://pubmed.ncbi.nlm.nih.gov/35868845/</a></p><p>Latif, Z., Chakchouk, I., Schrauwen, I., Lee, K., Santos-Cortez, R. L. P., Abbe, I., Acharya, A., Jarral, A., Ali, I., & Ullah, E. (2018). Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 59(11), 4552-4557. <a href="https://pubmed.ncbi.nlm.nih.gov/30208423/ ">https://pubmed.ncbi.nlm.nih.gov/30208423/</a></p><p>Lev, P., Bin, G., Ehsan, U., Archer, S. M., Ayres, B. M., Besirli, C. G., Laurel, W.-B., Comer, G. M., Del Monte Monte, A., & Elner, S. G. (2020). Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Scientific Reports (Nature Publisher Group), 10(1). <a href="https://pubmed.ncbi.nlm.nih.gov/33203948/">https://pubmed.ncbi.nlm.nih.gov/33203948/</a></p><p>Malechka, V., Cukras, C. A., Chew, E. Y., Blain, D., Jeffrey, B. G., Ullah, E., Hufnagel, R. B., Brooks, B. P., Huryn, L. A., & Zein, W. M. (2021). Clinical and Molecular Findings in a CDHR1 Retinal Dystrophy Cohort. Investigative Ophthalmology & Visual Science, 62(8), 3219-3219. <a href="https://pubmed.ncbi.nlm.nih.gov/35627310/">https://pubmed.ncbi.nlm.nih.gov/35627310/</a></p><p>Mena, R., Mendoza, E., Gomez Peña, M., Valencia, C. A., Ullah, E., Hufnagel, R. B., & Prada, C. E. (2020). An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. <a href="https://pubmed.ncbi.nlm.nih.gov/33219631/ ">https://pubmed.ncbi.nlm.nih.gov/33219631/</a></p><p>Pfau, M., Cukras, C. A., Huryn, L. A., Zein, W. M., Ullah, E., Boyle, M. P., Turriff, A., Chen, M. A., Hinduja, A. S., & Siebel, H. E. (2022). Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. JCI insight, 7(2). <a href="https://pubmed.ncbi.nlm.nih.gov/35076026/">https://pubmed.ncbi.nlm.nih.gov/35076026/</a></p><p>Pfau, M., Huryn, L. A., Boyle, M. P., Cukras, C. A., Zein, W. M., Turriff, A., Ullah, E., Hufnagel, R. B., Jeffrey, B. G., & Brooks, B. P. (2023). Natural history of visual dysfunction in ABCA4 Retinopathy and its genetic correlates. American Journal of Ophthalmology, 253, 224-232. <a href="https://pubmed.ncbi.nlm.nih.gov/37211138/">https://pubmed.ncbi.nlm.nih.gov/37211138/</a></p><p>Reeves, M. J., Goetz, K. E., Guan, B., Ullah, E., Blain, D., Zein, W. M., Tumminia, S. J., & Hufnagel, R. B. (2020). Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort. Human mutation, 41(9), 1528-1539. <a href="https://pubmed.ncbi.nlm.nih.gov/32531846/">https://pubmed.ncbi.nlm.nih.gov/32531846/</a></p><p>Santos-Cortez, R. L. P., Khan, V., Khan, F. S., Mughal, Z.-u.-N., Chakchouk, I., Lee, K., Rasheed, M., Hamza, R., Acharya, A., & Ullah, E. (2018). Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human Genetics, 137, 735-752. <a href="https://pubmed.ncbi.nlm.nih.gov/30167849/">https://pubmed.ncbi.nlm.nih.gov/30167849/</a></p><p>Schiff, E. R., Daich Varela, M., Robson, A. G., Pierpoint, K., Ba‐Abbad, R., Nutan, S., Zein, W. M., Ullah, E., Huryn, L. A., & Tuupanen, S. (2020). A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, <a href="https://pubmed.ncbi.nlm.nih.gov/32770643/">https://pubmed.ncbi.nlm.nih.gov/32770643/</a></p><p>Slavotinek, A. M., Garcia, S. T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P. F., & Wan, E. (2015). Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clinical genetics, 88(5), 468-473. <a href="https://pubmed.ncbi.nlm.nih.gov/25457163/">https://pubmed.ncbi.nlm.nih.gov/25457163/</a></p><p>Ullah, E., Saqib, M. A. N., Sajid, S., Shah, N., Zubair, M., Khan, M. A., Ahmed, I., Ali, G., Dutta, A. K., & Danda, S. (2016). Genetic analysis of consanguineous families presenting with congenital ocular defects. Experimental eye research, 146, 163-171. <a href="https://pubmed.ncbi.nlm.nih.gov/26995144/">https://pubmed.ncbi.nlm.nih.gov/26995144/</a></p><p>Zernant, J., Lee, W., Wang, J., Goetz, K., Ullah, E., Nagasaki, T., Su, P.-Y., Fishman, G. A., Tsang, S. H., & Tumminia, S. J. (2022). Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. PLoS Genetics, 18(3), e1010129. <a href="https://pubmed.ncbi.nlm.nih.gov/35353811/">https://pubmed.ncbi.nlm.nih.gov/35353811/</a></p>
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